Osteofibrous dysplasia

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Osteofibrous dysplasia

ORPHA:488265Disease

Also called OFD

What it is

Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.

Key facts

Age of onset
Childhood, Infancy
Inheritance
Autosomal dominant
Classified as
Disease

Gene

METDisease-causing germline mutation(s) (gain of function)

ICD-10 codes

D16.2filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 10887MESH C563276MONDO 0011806OMIM 607278UMLS C1709353

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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